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Clinical Translation

We have a strong expertise in screening and enrolling patients with a spectrum of pain disorders for our studies. We also possess very strong expertise in clinical phenotyping for research. Together with our unique database of patients with well-documented and functionally assessed mutations in sodium channels, this resource has permitted us to design and implement first-in-human translational studies.

International Pain Genetics Consortium: As the functional genomics hub of an international pain genetics consortium, we have access to rare mutations and gene variants culled from surveillance of an overall population of nearly 3 billion. Via institution-to-institution collaborations with University of Maastricht and University of Beijing, and via our participation as key members of the PROPANE international pain genetics consortium and Pain-Net, we collaborate closely with investigators with a focus on painful nerve injuries and neuropathies and the genetics of pain. These collaborations have, in addition to providing a unique platform for the study of pain genomics, provided a strong framework for inter-institutional collaboration and for recruitment of outstanding scientists from a large international pool.

Predictive Pharmacotherapy: Our Center has developed a unique pharmacogenomic approach that enables us to predict the most appropriate analgesic pharmacotherapy based on the patient’s genetic code (Yang et al., 2012). We have predicted drug response (Yang et al., 2012), and validated this approach through personalized treatment of pain in a genomically-guided placebo-controlled, double blind clinical study (Geha et al., 2016), and by a reverse-pharmacogenomics approach (Yang et al., 2017). We are currently building on this approach to define subgroups within the general population that differentially respond to available analgesic pharmacotherapy, with the goal of replacing trial-and-error with first-time-around relief in pain management.

Disease-in-a-Dish Platform: Our Center has developed a disease-in-a-dish platform using patient-specific iPSC-derived sensory neurons that recapitulate the clinical pain phenotype observed in the patient. We have used this platform in a double blind, placebo-controlled study carried out in collaboration with Pfizer, to assess the efficacy of Nav1.7 inhibitor PF-05089771 (Cao et al., 2016). Patient-specific iPSC-derived sensory neurons has already enabled parallel assessments of neuronal excitability and drug response to clinically relevant concentrations of PF-05089771 in a disease-in-a-dish model containing each patient’s entire genome, which closely corroborated findings in human subjects in the clinic (Cao et al., 2016).